Varaico: Literature-Extracted Genetic Variants

AASS

740 papers

RefSeq Summary

This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglu...

Pfam Domains

AlaDh_PNT_Naa 27–157UCSCAlanine dehydrogenase/PNT, N-terminal domain

Sacchrp_dh_NADPaa 483–598UCSCSaccharopine dehydrogenase NADP binding domain

Sacchrp_dh_Caa 602–916UCSCSaccharopine dehydrogenase C-terminal domain

Gene Aliases

HGNC Name

aminoadipate-semialdehyde synthase

HGNC Alias Symbols

LORSDH; LKRSDH; LKR/SDH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005763.4

p.N63_A66delFs

c.188_198del11

Surrounding Variants

2 papers

NM_005763.4

p.H68insFs

c.202dupC

1 paper

NM_005763.4

p.H68H

c.204T>C

1 paper

NM_005763.4

p.D69Y

c.205G>T

2 papers

NM_005763.4

p.D69N

c.205G>A

1 paper

NM_005763.4

p.D69D

c.207T>C

1 paper

NM_005763.4

p.R65P

c.194G>C

8 papers

NM_005763.4

p.R65Q

c.194G>A

4 papers

NM_005763.4

p.K70E

c.208A>G

1 paper

NM_005763.4

p.R65W

c.193C>T

1 paper

NM_005763.4

p.R65_A66insTGG

c.193_197ins9

1 paper

NM_005763.4

p.R65_A66ins4

c.193_197ins12

2 papers

NM_005763.4

p.R64delFs

c.191_192delCC